Gene Gene information from NCBI Gene database.
Entrez ID 27328
Gene name Protocadherin 11 X-linked
Gene symbol PCDH11X
Synonyms (NCBI Gene)
PCDH-XPCDH-YPCDH11PCDH11YPCDH22PCDHXPPP1R119
Chromosome X
Chromosome location Xq21.31
Summary This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of th
miRNA miRNA information provided by mirtarbase database.
258
miRTarBase ID miRNA Experiments Reference
MIRT645608 hsa-miR-590-3p HITS-CLIP 23824327
MIRT645607 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT645606 hsa-miR-324-5p HITS-CLIP 23824327
MIRT645605 hsa-miR-4775 HITS-CLIP 23824327
MIRT645604 hsa-miR-432-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 10644456
GO:0007155 Process Cell adhesion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300246 8656 ENSG00000102290
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZA7
Protein name Protocadherin-11 X-linked (Protocadherin-11) (Protocadherin on the X chromosome) (PCDH-X) (Protocadherin-S)
Protein function Potential calcium-dependent cell-adhesion protein.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08266 Cadherin_2 25 115 Cadherin-like Domain
PF00028 Cadherin 144 240 Cadherin domain Domain
PF00028 Cadherin 254 346 Cadherin domain Domain
PF00028 Cadherin 366 457 Cadherin domain Domain
PF00028 Cadherin 471 561 Cadherin domain Domain
PF00028 Cadherin 575 664 Cadherin domain Domain
PF00028 Cadherin 682 773 Cadherin domain Domain
PF08374 Protocadherin 775 998 Protocadherin Family
Tissue specificity TISSUE SPECIFICITY: Expressed strongly in fetal brain and brain (cortex, amygdala, thalamus, substantia nigra, hippocampus, caudate nucleus and corpus callosum). Expressed at low level in testis. {ECO:0000269|PubMed:10644456, ECO:0000269|PubMed:11003707}.
Sequence
MDLLSGTYIFAVLLACVVFHSGAQEKNYTIREEMPENVLIGDLLKDLNLSLIPNKSLTTA
MQFKLVYKTGDVPLIRIEEDTGEIFTTGARIDREKLCAGIPRDEHCFYEVEVAIL
PDEIF
RLVKIRFLIEDINDNAPLFPATVINISIPENSAINSKYTLPAAVDPDVGINGVQNYELIK
SQNIFGLDVIETPEGDKMPQLIVQKELDREEKDTYVMKVKVEDGGFPQRSSTAILQVSVT

DTNDNHPVFKETEIEVSIPENAPVGTSVTQLHATDADIGENAKIHFSFSNLVSNIARRLF
HLNATTGLITIKEPLDREETPNHKLLVLASDGGLMPARAMVLVNVT
DVNDNVPSIDIRYI
VNPVNDTVVLSENIPLNTKIALITVTDKDADHNGRVTCFTDHEIPFRLRPVFSNQFLLET
AAYLDYESTKEYAIKLLAADAGKPPLNQSAMLFIKVK
DENDNAPVFTQSFVTVSIPENNS
PGIQLTKVSAMDADSGPNAKINYLLGPDAPPEFSLDCRTGMLTVVKKLDREKEDKYLFTI
LAKDNGVPPLTSNVTVFVSII
DQNDNSPVFTHNEYNFYVPENLPRHGTVGLITVTDPDYG
DNSAVTLSILDENDDFTIDSQTGVIRPNISFDREKQESYTFYVKAEDGGRVSRSSSAKVT
INVV
DVNDNKPVFIVPPSNCSYELVLPSTNPGTVVFQVIAVDNDTGMNAEVRYSIVGGNT
RDLFAIDQETGNITLMEKCDVTDLGLHRVLVKANDLGQPDSLFSVVIVNLFVN
ESVTNAT
LINELVRKSTEAPVTPNTEIADVSSPTSDYVKILVAAVAGTITVVVVIFITAVVRCRQAP
HLKAAQKNKQNSEWATPNPENRQMIMMKKKKKKKKHSPKNLLLNFVTIEETKADDVDSDG
NRVTLDLPIDLEEQTMGKYNWVTTPTTFKPDSPDLARHYKSASPQPAFQIQPETPLNSKH
HIIQELPLDNTFVACDSISKCSSSSSDPYSVSDCGYPV
TTFEVPVSVHTRPPMKEVVRSC
TPMKESTTMEIWIHPQPQRKSEGKVAGKSQRRVTFHLPEGSQESSSDGGLGDHDAGSLTS
TSHGLPLGYPQEEYFDRATPSNRTEGDGNSDPESTFIPGLKKAAEITVQPTVEEASDNCT
QECLIYGHSDACWMPASLDHSSSSQAQASALCHSPPLSQASTQHHSPRVTQTIALCHSPP
VTQTIALCHSPPPIQVSALHHSPPLVQATALHHSPPSAQASALCYSPPLAQAAAISHSSP
LPQVIALHRSQAQSSVSLQQGWVQGADGLCSVDQGVQGSATSQFYTMSERLHPSDDSIKV
IPLTTFTPRQQARPSRGDSPIMEEHPL
Sequence length 1347
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Virion - Lassa virus and SFTS virus  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Alzheimer disease Likely benign ClinVar
GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PCDH11X-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 19136949
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 19136949, 26680604 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 19136949
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 19136949, 20523261, 20555150, 20707987, 21276771
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 19136949
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 19136949
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease CTD_human_DG 19136949
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASDB_DG 19136949, 21460841
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease, Focal Onset Alzheimer disease CTD_human_DG 19136949
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 16331680 Associate
★☆☆☆☆
Found in Text Mining only